ClinVar Miner

Submissions for variant NM_001605.3(AARS1):c.774T>C (p.Tyr258=)

dbSNP: rs2152162118
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001489979 SCV001694532 likely benign Charcot-Marie-Tooth disease type 2 2020-10-10 criteria provided, single submitter clinical testing

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